A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2222017



Internal ID17804527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222044138..222045559hg38UCSC Ensembl
Innerchr2:222908857..222910278hg19UCSC Ensembl
Innerchr2:222617101..222618522hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381422
hg191422
hg181422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979177
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2222017
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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